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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs45618543

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18400612 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003839 (482/125568, TOPMED)
T=0.00501 (394/78698, PAGE_STUDY)
T=0.00016 (11/67574, dbGaP Population Frequency Project) (+ 7 more)
T=0.00322 (101/31394, GnomAD)
T=0.00438 (57/13004, GO-ESP)
T=0.0028 (14/5008, 1000G)
C=0.0000 (0/3854, ALSPAC)
C=0.0003 (1/3708, TWINSUK)
G=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NAT2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 8 NC_000008.11:g.18400612G>C
GRCh38.p12 chr 8 NC_000008.11:g.18400612G>T
GRCh37.p13 chr 8 NC_000008.10:g.18258122G>C
GRCh37.p13 chr 8 NC_000008.10:g.18258122G>T
NAT2 RefSeqGene NG_012246.1:g.14368G>C
NAT2 RefSeqGene NG_012246.1:g.14368G>T
Gene: NAT2, N-acetyltransferase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT2 transcript NM_000015.3:c.609G>C E [GAG] > D [GAC] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu203Asp E (Glu) > D (Asp) Missense Variant
NAT2 transcript NM_000015.3:c.609G>T E [GAG] > D [GAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu203Asp E (Glu) > D (Asp) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.609G>C E [GAG] > D [GAC] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu203Asp E (Glu) > D (Asp) Missense Variant
NAT2 transcript variant X1 XM_017012938.1:c.609G>T E [GAG] > D [GAT] Coding Sequence Variant
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu203Asp E (Glu) > D (Asp) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 711433 )
ClinVar Accession Disease Names Clinical Significance
RCV000965068.1 not provided Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.996161 T=0.003839
The PAGE Study Global Study-wide 78698 G=0.99499 T=0.00501
The PAGE Study AfricanAmerican Sub 32512 G=0.98905 T=0.01095
The PAGE Study Mexican Sub 10810 G=0.99991 T=0.00009
The PAGE Study Asian Sub 8318 G=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9975 T=0.0025
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 T=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 T=0.0000
The PAGE Study Dominican Sub 3828 G=0.9969 T=0.0031
The PAGE Study CentralAmerican Sub 2450 G=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 G=0.9995 T=0.0005
The PAGE Study NativeAmerican Sub 1260 G=0.9968 T=0.0032
The PAGE Study SouthAsian Sub 856 G=1.000 T=0.000
ALFA Total Global 67574 G=0.99984 T=0.00016
ALFA European Sub 63150 G=0.99992 T=0.00008
ALFA Other Sub 3416 G=0.9997 T=0.0003
ALFA African Sub 850 G=0.994 T=0.006
ALFA Asian Sub 106 G=1.000 T=0.000
ALFA Latin American 2 Sub 34 G=1.00 T=0.00
ALFA South Asian Sub 10 G=1.0 T=0.0
ALFA Latin American 1 Sub 8 G=1.0 T=0.0
gnomAD - Genomes Global Study-wide 31394 G=0.99678 T=0.00322
gnomAD - Genomes European Sub 18902 G=0.99995 T=0.00005
gnomAD - Genomes African Sub 8714 G=0.9885 T=0.0115
gnomAD - Genomes East Asian Sub 1556 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 1084 G=1.0000 T=0.0000
gnomAD - Genomes American Sub 848 G=1.000 T=0.000
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13004 G=0.99562 T=0.00438
GO Exome Sequencing Project European American Sub 8600 G=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4404 G=0.9871 T=0.0129
1000Genomes Global Study-wide 5008 G=0.9972 T=0.0028
1000Genomes African Sub 1322 G=0.9902 T=0.0098
1000Genomes East Asian Sub 1008 G=1.0000 T=0.0000
1000Genomes Europe Sub 1006 G=1.0000 T=0.0000
1000Genomes South Asian Sub 978 G=1.000 T=0.000
1000Genomes American Sub 694 G=0.999 T=0.001
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 C=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 C=0.0003
SGDP_PRJ Global Study-wide 2 G=0.5 T=0.5
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= C T
GRCh38.p12 chr 8 NC_000008.11:g.18400612= NC_000008.11:g.18400612G>C NC_000008.11:g.18400612G>T
GRCh37.p13 chr 8 NC_000008.10:g.18258122= NC_000008.10:g.18258122G>C NC_000008.10:g.18258122G>T
NAT2 RefSeqGene NG_012246.1:g.14368= NG_012246.1:g.14368G>C NG_012246.1:g.14368G>T
NAT2 transcript NM_000015.3:c.609= NM_000015.3:c.609G>C NM_000015.3:c.609G>T
NAT2 transcript NM_000015.2:c.609= NM_000015.2:c.609G>C NM_000015.2:c.609G>T
NAT2 transcript variant X1 XM_017012938.1:c.609= XM_017012938.1:c.609G>C XM_017012938.1:c.609G>T
arylamine N-acetyltransferase 2 NP_000006.2:p.Glu203= NP_000006.2:p.Glu203Asp NP_000006.2:p.Glu203Asp
arylamine N-acetyltransferase 2 isoform X1 XP_016868427.1:p.Glu203= XP_016868427.1:p.Glu203Asp XP_016868427.1:p.Glu203Asp
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

48 SubSNP, 13 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss70456618 May 18, 2007 (127)
2 NHLBI-ESP ss342253613 May 09, 2011 (134)
3 ILLUMINA ss410878056 Sep 17, 2011 (135)
4 1000GENOMES ss460256627 Sep 17, 2011 (135)
5 ILLUMINA ss482066742 May 04, 2012 (137)
6 ILLUMINA ss485580722 May 04, 2012 (137)
7 1000GENOMES ss490960727 May 04, 2012 (137)
8 EXOME_CHIP ss491410764 May 04, 2012 (137)
9 ILLUMINA ss534486754 Sep 08, 2015 (146)
10 ILLUMINA ss779114230 Sep 08, 2015 (146)
11 ILLUMINA ss780867828 Sep 08, 2015 (146)
12 ILLUMINA ss781638979 Sep 08, 2015 (146)
13 ILLUMINA ss783552759 Sep 08, 2015 (146)
14 ILLUMINA ss834578473 Sep 08, 2015 (146)
15 1000GENOMES ss1328853914 Aug 21, 2014 (142)
16 EVA_UK10K_ALSPAC ss1620100544 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1663094577 Apr 01, 2015 (144)
18 EVA_EXAC ss1689107896 Apr 01, 2015 (144)
19 EVA_EXAC ss1689107897 Apr 01, 2015 (144)
20 ILLUMINA ss1946231115 Feb 12, 2016 (147)
21 ILLUMINA ss1959092410 Feb 12, 2016 (147)
22 HUMAN_LONGEVITY ss2301164562 Dec 20, 2016 (150)
23 TOPMED ss2470822159 Dec 20, 2016 (150)
24 ILLUMINA ss2634717909 Nov 08, 2017 (151)
25 ILLUMINA ss2634717910 Nov 08, 2017 (151)
26 ILLUMINA ss2634717911 Nov 08, 2017 (151)
27 ILLUMINA ss2711131677 Nov 08, 2017 (151)
28 GNOMAD ss2737016738 Nov 08, 2017 (151)
29 GNOMAD ss2748005953 Nov 08, 2017 (151)
30 GNOMAD ss2863932611 Nov 08, 2017 (151)
31 AFFY ss2985432617 Nov 08, 2017 (151)
32 ILLUMINA ss3022824459 Nov 08, 2017 (151)
33 TOPMED ss3555514771 Nov 08, 2017 (151)
34 ILLUMINA ss3625946941 Oct 12, 2018 (152)
35 ILLUMINA ss3630009728 Oct 12, 2018 (152)
36 ILLUMINA ss3630009729 Oct 12, 2018 (152)
37 ILLUMINA ss3632618571 Oct 12, 2018 (152)
38 ILLUMINA ss3635161288 Oct 12, 2018 (152)
39 ILLUMINA ss3640868578 Oct 12, 2018 (152)
40 ILLUMINA ss3644964289 Oct 12, 2018 (152)
41 ILLUMINA ss3653365289 Oct 12, 2018 (152)
42 ILLUMINA ss3654194408 Oct 12, 2018 (152)
43 ILLUMINA ss3726518840 Jul 13, 2019 (153)
44 ILLUMINA ss3744302588 Jul 13, 2019 (153)
45 ILLUMINA ss3745461078 Jul 13, 2019 (153)
46 PAGE_CC ss3771427491 Jul 13, 2019 (153)
47 EVA ss3824350631 Apr 26, 2020 (154)
48 SGDP_PRJ ss3869405015 Apr 26, 2020 (154)
49 1000Genomes NC_000008.10 - 18258122 Oct 12, 2018 (152)
50 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18258122 Oct 12, 2018 (152)
51 ExAC

Submission ignored due to conflicting rows:
Row 9201255 (NC_000008.10:18258121:G:G 120926/121044, NC_000008.10:18258121:G:T 118/121044)
Row 9201256 (NC_000008.10:18258121:G:G 121043/121044, NC_000008.10:18258121:G:C 1/121044)

- Oct 12, 2018 (152)
52 ExAC

Submission ignored due to conflicting rows:
Row 9201255 (NC_000008.10:18258121:G:G 120926/121044, NC_000008.10:18258121:G:T 118/121044)
Row 9201256 (NC_000008.10:18258121:G:G 121043/121044, NC_000008.10:18258121:G:C 1/121044)

- Oct 12, 2018 (152)
53 gnomAD - Genomes NC_000008.10 - 18258122 Jul 13, 2019 (153)
54 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184682 (NC_000008.10:18258121:G:G 250775/250776, NC_000008.10:18258121:G:C 1/250776)
Row 6184683 (NC_000008.10:18258121:G:G 250583/250776, NC_000008.10:18258121:G:T 193/250776)

- Jul 13, 2019 (153)
55 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184682 (NC_000008.10:18258121:G:G 250775/250776, NC_000008.10:18258121:G:C 1/250776)
Row 6184683 (NC_000008.10:18258121:G:G 250583/250776, NC_000008.10:18258121:G:T 193/250776)

- Jul 13, 2019 (153)
56 GO Exome Sequencing Project NC_000008.10 - 18258122 Oct 12, 2018 (152)
57 The PAGE Study NC_000008.11 - 18400612 Jul 13, 2019 (153)
58 SGDP_PRJ NC_000008.10 - 18258122 Apr 26, 2020 (154)
59 TopMed NC_000008.11 - 18400612 Oct 12, 2018 (152)
60 UK 10K study - Twins NC_000008.10 - 18258122 Oct 12, 2018 (152)
61 dbGaP Population Frequency Project NC_000008.11 - 18400612 Apr 26, 2020 (154)
62 ClinVar RCV000965068.1 Apr 26, 2020 (154)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
22761474, 22761474, ss1620100544, ss1663094577, ss1689107897, ss2737016738 NC_000008.10:18258121:G:C NC_000008.11:18400611:G:C (self)
ss2301164562 NC_000008.11:18400611:G:C NC_000008.11:18400611:G:C (self)
ss485580722 NC_000008.9:18302401:G:T NC_000008.11:18400611:G:T (self)
40947096, 111847189, 808489, 21421995, ss342253613, ss460256627, ss482066742, ss490960727, ss491410764, ss534486754, ss779114230, ss780867828, ss781638979, ss783552759, ss834578473, ss1328853914, ss1689107896, ss1946231115, ss1959092410, ss2470822159, ss2634717909, ss2634717910, ss2634717911, ss2711131677, ss2737016738, ss2748005953, ss2863932611, ss2985432617, ss3022824459, ss3625946941, ss3630009728, ss3630009729, ss3632618571, ss3635161288, ss3640868578, ss3644964289, ss3653365289, ss3654194408, ss3744302588, ss3745461078, ss3824350631, ss3869405015 NC_000008.10:18258121:G:T NC_000008.11:18400611:G:T (self)
RCV000965068.1, 648960, 384382897, 210430645, ss2301164562, ss3555514771, ss3726518840, ss3771427491 NC_000008.11:18400611:G:T NC_000008.11:18400611:G:T (self)
ss70456618, ss410878056 NT_167187.1:6116267:G:T NC_000008.11:18400611:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs45618543

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post557+f76c771